COL4A6

Jump to: navigation, search


Collagen, type IV, alpha 6
Identifiers
Symbols COL4A6 ; MGC88184
External IDs OMIM: 303631 MGI2152695 HomoloGene48050
RNA expression pattern
PBB GE COL4A6 211473 s at tn.png
PBB GE COL4A6 213992 at tn.png
PBB GE COL4A6 210945 at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 1288
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 94216

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000197565
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000031273

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q14031
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_001847 (mRNA)
NP_001838 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_053185 (mRNA)
NP_444415 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr X: 107.29 - 107.57 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr X: 136.41 -  136.72 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Collagen, type IV, alpha 6, also known as COL4A6, is a human gene.[1]

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene.[1]

References

  1. 1.0 1.1 "Entrez Gene: COL4A6 collagen, type IV, alpha 6".

Further reading

  • Ständer M, Naumann U, Wick W, Weller M (1999). "Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth". Cell Tissue Res. 296 (2): 221–7. PMID 10382266.
  • Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology". Biotechnic & histochemistry : official publication of the Biological Stain Commission. 74 (3): 146–59. PMID 10416788.
  • Ghebrehiwet B, Peerschke EI, Hong Y; et al. (1992). "Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV". J. Leukoc. Biol. 51 (6): 546–56. PMID 1377218.
  • Gupta S, Batchu RB, Datta K (1992). "Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface". Eur. J. Cell Biol. 56 (1): 58–67. PMID 1724753.
  • Hernandez MR, Igoe F, Neufeld AH (1986). "Extracellular matrix of the human optic nerve head". Am. J. Ophthalmol. 102 (2): 139–48. PMID 2426947.
  • Glant TT, Hadházy C, Mikecz K, Sipos A (1985). "Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II". Histochemistry. 82 (2): 149–58. PMID 3997552.
  • Matsubara T, Trüeb B, Fehr K; et al. (1984). "The localization and secretion of type IV collagen in synovial capillaries by immunohistochemistry using a monoclonal antibody against human type IV collagen". Exp. Cell Biol. 52 (3): 159–69. PMID 6386565.
  • Uscanga L, Kennedy RH, Stocker S; et al. (1984). "Immunolocalization of collagen types, laminin and fibronectin in the normal human pancreas". Digestion. 30 (3): 158–64. PMID 6389236.
  • Sundarraj N, Willson J (1982). "Monoclonal antibody to human basement membrane collagen type IV". Immunology. 47 (1): 133–40. PMID 6811420.
  • Hahn E, Wick G, Pencev D, Timpl R (1980). "Distribution of basement membrane proteins in normal and fibrotic human liver: collagen type IV, laminin, and fibronectin". Gut. 21 (1): 63–71. PMID 6988303.
  • Sasaki T, Göhring W, Pan TC; et al. (1996). "Binding of mouse and human fibulin-2 to extracellular matrix ligands". J. Mol. Biol. 254 (5): 892–9. doi:10.1006/jmbi.1995.0664. PMID 7500359.
  • Oohashi T, Ueki Y, Sugimoto M, Ninomiya Y (1995). "Isolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genes". J. Biol. Chem. 270 (45): 26863–7. PMID 7592929.
  • Sugimoto M, Oohashi T, Ninomiya Y (1994). "The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters". Proc. Natl. Acad. Sci. U.S.A. 91 (24): 11679–83. PMID 7972123.
  • Donovan FM, Vaughan PJ, Cunningham DD (1994). "Regulation of protease nexin-1 target protease specificity by collagen type IV". J. Biol. Chem. 269 (25): 17199–205. PMID 8006028.
  • Oohashi T, Sugimoto M, Mattei MG, Ninomiya Y (1994). "Identification of a new collagen IV chain, alpha 6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5". J. Biol. Chem. 269 (10): 7520–6. PMID 8125972.
  • Zhou J, Ding M, Zhao Z, Reeders ST (1994). "Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains". J. Biol. Chem. 269 (18): 13193–9. PMID 8175748.
  • Zhou J, Mochizuki T, Smeets H; et al. (1993). "Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors". Science. 261 (5125): 1167–9. PMID 8356449.
  • Zhang X, Zhou J, Reeders ST, Tryggvason K (1996). "Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis". Genomics. 33 (3): 473–9. doi:10.1006/geno.1996.0222. PMID 8661006.
  • Cáceres J, Brandan E (1997). "Interaction between Alzheimer's disease beta A4 precursor protein (APP) and the extracellular matrix: evidence for the participation of heparan sulfate proteoglycans". J. Cell. Biochem. 65 (2): 145–58. PMID 9136074.
  • Knott JC, Mahesparan R, Garcia-Cabrera I; et al. (1998). "Stimulation of extracellular matrix components in the normal brain by invading glioma cells". Int. J. Cancer. 75 (6): 864–72. PMID 9506531.

Linked-in.jpg